Roxana Borghese: a genetic advisor


That morning, Roxana Borghese genetic advisor at the Necker-Enfants malades hospital and at the Imagine Institute sees a mother who is considering prenatal testing to find out if her unborn child is at risk of developing the same illness as her first child, who suffers from tuberous sclerosis (TSC), a rare genetic disease.


To inform families

In addition to appointments with genetic doctors, some couples have a consultation with a genetic advisor. It could be couples who already have a child with a genetic disease, or when one of them is a carrier of a genetic disease or is from a family with a known genetic disease. They need to know their risk of passing the disease on to their child. “During the consultation, I come back to the disease of the parent or child, the monitoring of it, and we gradually go over the family history to find out if there are other cases in their relatives, says Roxana Borghese. My role is to inform families of possible prenatal diagnosis techniques and to help them to make the right decisions.”


…and to support the families in their decision

Various prenatal diagnosis solutions can be offered depending on the family situation and the pathology. For families where a genetic risk has clearly been identified, we can offer preimplantation testing, whereas prenatal testing can be done in the first two and a half months of pregnancy if a genetic disease has been identified in the family. In all cases, in respect of the Comité Consultatif national d’éthique opinion [French National Consultative Ethics Committee], a prenatal diagnosis must only and can only be offered to avoid a serious pathology and of a particular severity in an unborn child.

“As an advisor, I explain the facts, the difference between the techniques and the associated risks for the mother and the fetus. I explain the challenges in the simplest way possible and I inform them to help them make the best decisions. It is not always an easy decision and it can have serious consequences since an unfavorable prenatal diagnosis can lead to a medical termination of the pregnancy. The family still has to make the decision. Genetics, it is only unique situations, we cannot generalize a course of action.” Explains Roxana Borghese.

In the case of Thomas, it concerns a mutation in one of the two known genes responsible for TSC. The parents are not carriers of this alteration in their blood, but there is still a low risk of recurrence related to the “germline mosaic” phenomenon. The future mother wants to do a prenatal sample to completely reassure her and make sure that her unborn child will not be a carrier of the same mutation of the gene responsible for TSC. Only this mutation will be tested in the context of prenatal testing.


An expanding job

“I know the universe of future parents well because I was a midwife for 8 years before deciding to return to education to become a genetic advisor. I still want to add to my knowledge, I have just finished a university degree on fetal medicine and I would like to follow this with constitutional bone disorders. Because working at Imagine, it is a real Pandora’s box of diseases, indeed all genetic, that I can and want to explore to always respond effectively to the families.” Concludes the genetic advisor.